Canonical Allele Identifier: CA2805579127
Gene: NTHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2045946_2045948del , CM000678.2:g.2045946_2045948del GRCh38
NC_000016.9:g.2095947_2095949del , CM000678.1:g.2095947_2095949del GRCh37
NC_000016.8:g.2035948_2035950del NCBI36
NG_005895.1:g.1641_1643del , LRG_487:g.1641_1643del
NG_008412.1:g.6921_6923del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651522.1:c.63+182_63+184del ENSP00000498290.1:n.63+182_63+184del
ENST00000651570.2:c.354+182_354+184del MANE Select ENSP00000498421.1:n.354+182_354+184del
ENST00000651583.1:c.309+182_309+184del ENSP00000498821.1:n.309+182_309+184del
ENST00000219066.5:c.378+182_378+184del ENSP00000219066.1:n.378+182_378+184del
ENST00000561841.1:c.274+182_274+184del
ENST00000562120.1:n.87+182_87+184del
ENST00000566380.5:c.317+182_317+184del
ENST00000568513.5:c.173+334_173+336del
NM_002528.5:c.378+182_378+184del NP_002519.1:n.378+182_378+184del
XM_011522505.1:c.378+182_378+184del XP_011520807.1:n.378+182_378+184del
NM_001318193.1:c.378+182_378+184del NP_001305122.1:n.378+182_378+184del
NM_001318194.1:c.24+334_24+336del NP_001305123.1:n.24+334_24+336del
NM_002528.6:c.378+182_378+184del NP_002519.1:n.378+182_378+184del
XM_017023253.1:c.378+182_378+184del XP_016878742.1:n.378+182_378+184del
NM_001318193.2:c.354+182_354+184del NP_001305122.2:n.354+182_354+184del
NM_002528.7:c.354+182_354+184del MANE Select NP_002519.2:n.354+182_354+184del
NM_001318194.2:c.24+334_24+336del NP_001305123.1:n.24+334_24+336del